Varaico: Literature-Extracted Genetic Variants

Gene:UBE4B
Variant:p.A444fs

UBE4B

119 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

Ufd2P_coreaa 591–1212UCSCUbiquitin elongating factor core
U-boxaa 1228–1299UCSCU-box domain

Gene Aliases

HGNC Name

ubiquitination factor E4B

HGNC Alias Symbols

UBOX3; E4; UFD2; KIAA0684

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001105562.3
p.A444fs
c.1330_1331fs
Surrounding Variants
1 paper
NM_001105562.3
p.E441G
c.1322A>G
1 paper
NM_001105562.3
p.K443delFs
c.1329delA
1 paper
NM_001105562.3
p.R436*
c.1306C>T
1 paper
NM_001105562.3
p.F434F
c.1302C>T
1 paper
NM_006048.5
p.W280*
c.839G>A
1 paper
NM_001105562.3
p.K446_M447Splc
c.1339-9C>T
1 paper
NM_001105562.3
p.C448Y
c.1343G>A
1 paper
NM_001105562.3
p.L456F
c.1366C>T
1 paper
NM_001105562.3
p.Q463H
c.1389G>C
1 paper
NM_001105562.3
p.Q463H
c.1389G>T
1 paper
NM_001105562.3
p.R480M
c.1439G>T
2 papers
NM_001105562.3
p.R480Splc
c.1439+1G>C
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